Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Anthony T Moore

Showing results (201-210 of 277) with videos related to

Pageof 28
Sort By:
Investigative Ophthalmology & Visual Science|May 26, 2005
Identification of novel RPGR ORF15 mutations in X-linked progressive cone-rod dystrophy (XLCORD) familiesNeil D Ebenezer, Michel Michaelides, Sharon A Jenkins, et al.
American Journal of Human Genetics|January 31, 2017
Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal DegenerationGavin Arno, Keren J Carss, Sarah Hull, et al.
American Journal of Human Genetics|December 6, 2011
Biallelic mutations in PLA2G5, encoding group V phospholipase A2, cause benign fleck retinaPanagiotis I Sergouniotis, Alice E Davidson, Donna S Mackay, et al.
Investigative Ophthalmology & Visual Science|September 14, 2016
Reevaluation of the Retinal Dystrophy Due to Recessive Alleles of RGR With the Discovery of a Cis-Acting Mutation in CDHR1Gavin Arno, Sarah Hull, Keren Carss, et al.
American Journal of Human Genetics|March 31, 2015
Mutations in TUBGCP4 alter microtubule organization via the γ-tubulin ring complex in autosomal-recessive microcephaly with chorioretinopathySophie Scheidecker, Christelle Etard, Laurence Haren, et al.
Scientific Reports|January 30, 2020
The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56Basamat Almoallem, Gavin Arno, Julie De Zaeytijd, et al.
Scientific Reports|March 2, 2017
Rescue of the MERTK phagocytic defect in a human iPSC disease model using translational read-through inducing drugsConor M Ramsden, Britta Nommiste, Amelia R Lane, et al.
The New England Journal of Medicine|July 20, 2007
Complement C3 variant and the risk of age-related macular degenerationJohn R W Yates, Tiina Sepp, Baljinder K Matharu, et al.
Investigative Ophthalmology & Visual Science|June 26, 2019
Characterization of Retinal Structure in ATF6-Associated AchromatopsiaRebecca R Mastey, Michalis Georgiou, Christopher S Langlo, et al.
Human Gene Therapy|September 27, 2013
Human cone visual pigment deletions spare sufficient photoreceptors to warrant gene therapyArtur V Cideciyan, Robert B Hufnagel, Joseph Carroll, et al.
Pageof 28

Showing results (201-210 of 277) with videos related to

Sort By:
Pageof 28
Investigative Ophthalmology & Visual Science|May 26, 2005
Identification of novel RPGR ORF15 mutations in X-linked progressive cone-rod dystrophy (XLCORD) familiesNeil D Ebenezer, Michel Michaelides, Sharon A Jenkins, et al.
American Journal of Human Genetics|January 31, 2017
Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal DegenerationGavin Arno, Keren J Carss, Sarah Hull, et al.
American Journal of Human Genetics|December 6, 2011
Biallelic mutations in PLA2G5, encoding group V phospholipase A2, cause benign fleck retinaPanagiotis I Sergouniotis, Alice E Davidson, Donna S Mackay, et al.
Investigative Ophthalmology & Visual Science|September 14, 2016
Reevaluation of the Retinal Dystrophy Due to Recessive Alleles of RGR With the Discovery of a Cis-Acting Mutation in CDHR1Gavin Arno, Sarah Hull, Keren Carss, et al.
American Journal of Human Genetics|March 31, 2015
Mutations in TUBGCP4 alter microtubule organization via the γ-tubulin ring complex in autosomal-recessive microcephaly with chorioretinopathySophie Scheidecker, Christelle Etard, Laurence Haren, et al.
Scientific Reports|January 30, 2020
The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56Basamat Almoallem, Gavin Arno, Julie De Zaeytijd, et al.
Scientific Reports|March 2, 2017
Rescue of the MERTK phagocytic defect in a human iPSC disease model using translational read-through inducing drugsConor M Ramsden, Britta Nommiste, Amelia R Lane, et al.
The New England Journal of Medicine|July 20, 2007
Complement C3 variant and the risk of age-related macular degenerationJohn R W Yates, Tiina Sepp, Baljinder K Matharu, et al.
Investigative Ophthalmology & Visual Science|June 26, 2019
Characterization of Retinal Structure in ATF6-Associated AchromatopsiaRebecca R Mastey, Michalis Georgiou, Christopher S Langlo, et al.
Human Gene Therapy|September 27, 2013
Human cone visual pigment deletions spare sufficient photoreceptors to warrant gene therapyArtur V Cideciyan, Robert B Hufnagel, Joseph Carroll, et al.
Pageof 28